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Reported to cause oculocutaneous albinism in a recessive manner. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004011/), and comes from Fukai et al 1995 (PMID: 7704033) who found this variant carried heterozygously by one of 12 patients studied.

Numerous reports confirm this is a well-established cause of oculocutaneous albinism type 1 (recessive). Oetting, et al. 1991 reported this variant as compound heterozygous in one of three patients. Gershoni-Baruch, et al. 1994 found it compound heterozygous in 2 of 38 cases. Later studies further confirm variant, e.g. Hutton et al. 2008 (4 compound het carriers in 36 patients, PMID 18326704) and the same authors later found it heterozygous in 23 out of 121 patients (PMID 18463683).

This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.